Kym M Boycott Selected Research

Rare Diseases (Rare Disease)

10/2023	Precision medicine in rare diseases: What is next?
10/2023	RNA sequencing resolves novel DYNC2H1 variants causing short-rib thoracic dysplasia type 3: Case report.
10/2022	Positioning whole exome sequencing in the diagnostic pathway for rare disease to optimise utility: a protocol for an observational cohort study and an economic evaluation.
1/2022	The complexity of diagnosing rare disease: An organizing framework for outcomes research and health economics based on real-world evidence.
1/2019	International collaborative actions and transparency to understand, diagnose, and develop therapies for rare diseases.
1/2019	Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
12/2018	Unsolved recognizable patterns of human malformation: Challenges and opportunities.
1/2018	Addressing challenges in the diagnosis and treatment of rare genetic diseases.
12/2017	The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact.
12/2017	Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency.

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Kym M Boycott Research Topics

Disease

17	Rare Diseases (Rare Disease) 10/2023 - 06/2012
8	Seizures (Absence Seizure) 01/2018 - 11/2012
7	Microcephaly 01/2019 - 02/2012
5	Intellectual Disability (Idiocy) 01/2021 - 07/2013
5	Inborn Genetic Diseases (Disease, Hereditary) 11/2019 - 06/2012
4	Mitochondrial Diseases (Mitochondrial Disease) 10/2022 - 03/2014
4	Epilepsy (Aura) 01/2020 - 01/2019
4	Ciliopathies 08/2015 - 12/2011
3	Neurodegenerative Diseases (Neurodegenerative Disease) 03/2024 - 02/2015
3	Muscle Hypotonia (Hypotonia) 01/2021 - 11/2012
3	Neoplasms (Cancer) 12/2017 - 06/2013
3	Ataxia (Dyssynergia) 02/2016 - 03/2009
2	Agenesis of Cerebellar Vermis 12/2023 - 01/2014
2	Mitochondrial encephalopathy 10/2022 - 01/2019
2	Neurodevelopmental Disorders 01/2021 - 01/2018
2	Myofibromatosis 05/2019 - 06/2013
2	Peripheral Nervous System Diseases (PNS Diseases) 01/2019 - 03/2009
2	Movement Disorders (Movement Disorder) 01/2019 - 01/2019
2	Cardiomyopathies (Cardiomyopathy) 01/2018 - 03/2014
2	Retinitis Pigmentosa (Pigmentary Retinopathy) 01/2017 - 08/2015
2	Rubinstein-Taybi Syndrome (Syndrome, Rubinstein-Taybi) 12/2012 - 02/2012
2	Floating-harbor syndrome 12/2012 - 02/2012
1	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 03/2024
1	46,XY Disorder of Sex Development (Male Pseudohermaphroditism) 12/2023
1	Disease Progression 10/2023
1	Pleural Effusion (Pleural Effusions) 01/2023
1	Undiagnosed Diseases 01/2022
1	Malformations of Cortical Development 01/2021
1	congenital fibrosis of the extraocular muscles 01/2021
1	Alacrima 01/2021
1	Obesity 01/2021
1	Esophageal Achalasia (Megaesophagus) 01/2021
1	Achalasia Addisonianism Alacrimia syndrome 01/2021
1	Adrenal Insufficiency (Adrenal Gland Hypofunction) 01/2021
1	Infantile Epileptic-Dyskinetic Encephalopathy 11/2020
1	Type 1D Limb-Girdle Muscular Dystrophy 02/2020
1	Myoclonic Epilepsies (Myoclonic Encephalopathy) 01/2020
1	Autistic Disorder (Autism) 11/2019
1	Placenta Diseases (Placenta Disorder) 02/2019
1	Ectodermal Dysplasia (Aplasia Cutis Congenita) 01/2019
1	Optic Atrophy 01/2019
1	Polyneuropathies (Polyneuropathy) 01/2019
1	Sensorineural Hearing Loss 11/2018
1	Cognitive Dysfunction 01/2018
1	Metabolic Diseases (Metabolic Disease) 01/2018
1	Coenzyme Q10 Deficiency 01/2018
1	Pyridoxine-dependent epilepsy 12/2017
1	Autosomal Dominant Cutis Laxa 06/2017
1	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 01/2017

Drug/Important Bio-Agent (IBA)

14	Proteins (Proteins, Gene)FDA Link 01/2022 - 02/2010
7	DNA (Deoxyribonucleic Acid)IBA 10/2022 - 06/2012
5	RNA (Ribonucleic Acid)IBA 12/2023 - 06/2013
5	EnzymesIBA 01/2018 - 06/2012
4	MMEIBA 01/2022 - 10/2015
3	Retinaldehyde (Retinal)IBA 01/2019 - 10/2014
3	Carrier Proteins (Binding Protein)IBA 11/2018 - 07/2013
2	Indicators and Reagents (Reagents)IBA 01/2022 - 01/2017
2	Amino Acids FDA Link 02/2020 - 01/2018
2	Platelet-Derived Growth Factor beta Receptor (Receptor, Platelet Derived Growth Factor beta)IBA 05/2019 - 06/2013
2	ChromatinIBA 02/2019 - 01/2017
2	PyridoxalIBA 01/2019 - 12/2017
2	Leucovorin (Folinic Acid)FDA Link 01/2019 - 02/2016
2	Fatty Acids (Saturated Fatty Acids)IBA 01/2018 - 01/2016
2	Lysine (L-Lysine)FDA Link 12/2017 - 12/2017
2	ManganeseIBA 12/2015 - 12/2015
2	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 07/2015 - 11/2014
2	Alanine (L-Alanine)FDA Link 03/2014 - 07/2013
2	Oxidoreductases (Dehydrogenase)IBA 07/2013 - 11/2012
2	CREB-Binding ProteinIBA 12/2012 - 02/2012
1	fibroblast growth factor 14IBA 03/2024
1	Retroelements (Retrotransposon)IBA 12/2023
1	Octreotide (Sandostatin)FDA LinkGeneric 01/2023
1	ProteomeIBA 10/2022
1	Cardiolipins (Cardiolipin)IBA 10/2022
1	cardiolipin synthetaseIBA 10/2022
1	2- amino- 1- methyl- 6- phenylimidazo(4,5- b)pyridineIBA 01/2021
1	Adrenocorticotropic Hormone (ACTH)FDA Link 01/2021
1	TubulinIBA 01/2021
1	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 11/2020
1	Acetylcholine (Acetylcholine Chloride)FDA Link 01/2020
1	Phosphotransferases (Kinase)IBA 11/2019
1	Platelet-Derived Growth Factor Receptors (Platelet-Derived Growth Factor Receptor)IBA 05/2019
1	VitaminsIBA 01/2019
1	IronIBA 01/2019
1	Mitochondrial RNAIBA 11/2018
1	coenzyme Q10 (CoQ10)IBA 01/2018
1	Wiskott-Aldrich Syndrome Protein FamilyIBA 01/2018
1	ubiquinone 9IBA 01/2018
1	N-acetyltryptophanamide (NATA)IBA 01/2018
1	Pyridoxine (Pyridoxin)FDA LinkGeneric 12/2017
1	Histones (Histone)IBA 12/2017
1	Vitamin B 6IBA 12/2017
1	Messenger RNA (mRNA)IBA 08/2017
1	Aldehyde DehydrogenaseIBA 06/2017
1	Immunoglobulin D (IgD)IBA 01/2017
1	Inositol (Myoinositol)IBA 01/2017
1	c-Mer Tyrosine KinaseIBA 01/2017

Therapy/Procedure

7	Therapeutics 10/2023 - 06/2012
2	Precision Medicine 10/2023 - 05/2017
1	Long-Term Care 01/2020